515 results match your criteria Pachyonychia Congenita

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.

Eur J Hum Genet 2022 Jun 9. Epub 2022 Jun 9.

Department of Molecular Biology and Genetics, MOBGAM, Istanbul Technical University, Istanbul, Turkey.

We present the first pachyonychia congenita (PC) to involve all ectodermal derivatives and the first recessive KRT17-related PC in total seven members of two consanguineous Pakistani families. This atypical PC is characterized by an unusual combination of pachyonychia, plantar keratoderma, folliculitis, alopecia, sparse eyebrows, dental anomalies and variable acanthosis nigricans of neck, dry skin, palmoplantar hyperhidrosis, recurrent blisters on soles and/or arms, rough sparse hair on scalp and keratosis pilaris. By exome sequencing we detected homozygous KRT17 c. Read More

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Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.

Br J Dermatol 2022 May 23. Epub 2022 May 23.

Division of Dermatology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.

Background: The coexistence of pachyonychia congenita (PC) and hidradenitis suppurativa (HS) has been described in case reports. However, the pathomechanism underlying this association and its true prevalence are unknown.

Objectives: To determine the genetic defect underlying the coexistence of PC and HS in a large kindred, to delineate a pathophysiological signalling defect jointly leading to both phenotypes, and to estimate the prevalence of HS in PC. Read More

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Treatment of Painful Palmoplantar Keratoderma Related to Pachyonychia Congenita Using EGFR Inhibitors.

Biomedicines 2022 Apr 3;10(4). Epub 2022 Apr 3.

IMAGINE Institute, Inserm U1163, Université de Paris, 75015 Paris, France.

Pachyonychia congenita (PC) is a genodermatosis associated with severe painful palmoplantar keratoderma (PPK) and thickened dystrophic nails caused by autosomal dominant-negative mutations in five genes encoding keratins 6A-B-C, 16, and 17. The mechanical, surgical, or medical options for painful PC are inefficient. Given ErbB/Her family members' role in epidermal homeostasis, this study sought to investigate the possibility of treating PC patients with PPK by blocking signaling either with EGFR (Her1) inhibitor erlotinib or lapatinib, a dual EGFR(Her1)/Her2. Read More

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Scrutinising the role of simvastatin in a patient of Pachyonychia Congenita with KRT6A gene mutation.

Australas J Dermatol 2022 May 16;63(2):e145-e149. Epub 2022 Apr 16.

Pt BD Sharma Postgraduate Institute of Medical Sciences, Rohtak, India.

A 25-year-old male patient presented with palmoplantar keratoderma, dystrophic nails, severe plantar pain and oral leukokeratosis since birth. On genetic analysis, a heterozygous KRT6A gene missense mutation (c.1381G > A, p. Read More

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Genotype-phenotype correlations of neurovascular structures on the feet in patients with pachyonychia congenita: A cross-sectional study.

J Am Acad Dermatol 2022 Mar 2. Epub 2022 Mar 2.

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom. Electronic address:

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A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.

BMC Med Genomics 2021 11 1;14(1):259. Epub 2021 Nov 1.

Department of Obstetrics, The International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, 910 Henshan Road, Shanghai, 200030, China.

Background: Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized with nail dystrophy and palmoplantar keratoderma (PPK). The most prominent manifestation is plantar pain. Read More

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November 2021

Future Perspectives of Oral Delivery of Next Generation Therapies for Treatment of Skin Diseases.

Pharmaceutics 2021 Oct 18;13(10). Epub 2021 Oct 18.

Regenerative Medicine Department, LEO Pharma A/S, Industriparken 55, 2750 Ballerup, Denmark.

Gene therapies have conspicuously bloomed in recent years as evidenced by the increasing number of cell-, gene-, and oligo-based approved therapies. These therapies hold great promise for dermatological disorders with high unmet need, for example, epidermolysis bullosa or pachyonychia congenita. Furthermore, the recent clinical success of clustered regularly interspaced short palindromic repeats (CRISPR) for genome editing in humans will undoubtedly contribute to defining a new wave of therapies. Read More

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October 2021

Prevalence and Characterization of Itch in Pachyonychia Congenita.

JAMA Dermatol 2021 11;157(11):1378-1380

Department of Dermatology, The Royal London Hospital, Barts Health National Health Service Trust and Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London, London E1 2AT, England.

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November 2021

Ocular manifestations of skin diseases with pathological keratinization abnormalities.

Postepy Dermatol Alergol 2021 Feb 10;38(2):14-20. Epub 2021 Mar 10.

Department and Clinic of Dermatology, Carl-Thiem-Klinikum, Cottbus, Germany.

Keratinization means cytodifferentiation of keratinocytes turning into corneocytes in the stratum corneum. Disorders of keratinization (hyperkeratosis, parakeratosis and dyskeratosis) are causing many dermatological diseases, including various types of ichthyoses, pachyonychia congenita, pityriasis rubra pilaris, all subtypes of psoriasis, pityriasis lichenoides, dyskeratosis congenita, leukoplakia and keratosis follicularis, which apart from skin lesions may affect the eye's adnexae causing ectropion, entropion, blepharitis, madarosis, and trichiasis, the ocular surface causing keratitis, conjunctivitis, corneal ulceration and episcleritis, which in turn cause uveitis and various fundoscopic changes (proliferative retinopathy, retinal vasculopathy, macular oedema and birdshot chorioretinopathy). Knowledge of ocular symtoms associated with pathological keratinization is crucial, preventing sight-threatening complications such as corneal perforation, lagophthalmus, phthisis bulbi, retinal neovascularization, retinal vasculopathy and optic nerve atrophy. Read More

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February 2021

Highly branched poly(β-amino ester)s for gene delivery in hereditary skin diseases.

Adv Drug Deliv Rev 2021 09 20;176:113842. Epub 2021 Jul 20.

Charles Institute of Dermatology, University College Dublin, Dublin 4, Ireland. Electronic address:

Non-viral gene therapy for hereditary skin diseases is an attractive prospect. However, research efforts dedicated to this area are rare. Taking advantage of the branched structural possibilities of polymeric vectors, we have developed a gene delivery platform for the treatment of an incurable monogenic skin disease - recessive dystrophic epidermolysis bullosa (RDEB) - based on highly branched poly(β-amino ester)s (HPAEs). Read More

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September 2021

Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.

J Invest Dermatol 2021 12 8;141(12):2876-2884.e4. Epub 2021 Jun 8.

Department of Dermatology, Stanford University School of Medicine, Stanford, California, USA. Electronic address:

Pachyonychia congenita (PC) is a genetic disorder of keratin that presents with nail dystrophy, painful palmoplantar keratoderma, and other clinical manifestations. We investigated the genotype‒structurotype‒phenotype correlations seen with mutations in keratin genes (keratin [K]6A, K6B, K6C, K16, K17) and utilized protein structure modeling of high-frequency mutations to examine the functional importance of keratin structural domains in PC pathogenesis. Participants of the International PC Research Registry underwent genetic testing and completed a standardized survey on their symptoms. Read More

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December 2021

Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes.

Skin Appendage Disord 2021 Apr 5;7(3):194-202. Epub 2021 Feb 5.

Department of Dermatology, Weill Cornell Medicine, New York, New York, USA.

Introduction: Pachyonychia congenita (PC) is a rare dermatosis that confers lifelong physical and emotional morbidities in affected patients. However, the clinical findings, treatments, and psychosocial impact of this disease have not been adequately described. The International PC Research Registry (IPCRR), a multinational initiative to collect data on PC patients, has allowed an opportunity to distinguish the salient features of this disease. Read More

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Coexistence of Hidradenitis Suppurativa and Steatocystoma Multiplex: Is It a New Variant of Hidradenitis Suppurativa?

J Cutan Med Surg 2021 Nov-Dec;25(6):586-590. Epub 2021 Apr 28.

12366 Department of Dermatology, Mayo Clinic, Rochester, MN, USA.

Hidradenitis suppurativa and steatocystoma multiplex may coexist in the same patient. The overlap of these 2 conditions could be suggestive of an unrecognized defect in follicular proliferation mutual in the pathogenesis of both conditions. Here we present 5 patients with both hidradenitis suppurativa and steatocystoma multiplex. Read More

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February 2022

Familial neurofibromatosis type 1 has diverse manifestations in skin and is associated with steatocystoma multiplex.

Clin Exp Dermatol 2021 Aug 19;46(6):1166-1169. Epub 2021 Apr 19.

Department of Dermatology, the First Affiliated Hospital, Anhui Medical University, Institute of Dermatology, Anhui Medical University, Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.

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A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita.

Int J Gen Med 2021 17;14:903-907. Epub 2021 Mar 17.

Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, People's Republic of China.

Background: Pachyonychia congenita (PC) is a rare, autosomal dominant genodermatosis characterized by palmoplantar keratoderma, nail dystrophy, cystic lesions, follicular hyperkeratosis, mucosal leukokeratoses, hyperhidrosis, hoarseness, and, rarely, natal teeth. Five keratin genes, and , have been found to be associated with PC.

Methods: Using polymerase chain reaction and Sanger sequencing techniques, the purpose of the present study was to investigate the clinical features associated with PC and discover disease-associated variants. Read More

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Pediatric Nail Disorders.

Dermatol Clin 2021 Apr 10;39(2):231-243. Epub 2021 Feb 10.

Duke University School of Medicine, 5324 McFarland Drive, Suite 410, Durham, NC 27707, USA. Electronic address:

Many pediatric nail findings are normal variants and are no cause for alarm. Others represent congenital abnormalities or genetic syndromes for which there is no cure. Still others are inflammatory or infectious entities that require treatment. Read More

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Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.

Toxins (Basel) 2021 02 5;13(2). Epub 2021 Feb 5.

Dermatological Clinic, Department of Clinical and Molecular Sciences, Polytechnic Marche University, 60020 Ancona, Italy.

Botulinum toxin is a superfamily of neurotoxins produced by the bacterium Clostridium Botulinum with well-established efficacy and safety profile in focal idiopathic hyperhidrosis. Recently, botulinum toxins have also been used in many other skin diseases, in off label regimen. The objective of this manuscript is to review and analyze the main therapeutic applications of botulinum toxins in skin diseases. Read More

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February 2021

Imaging features of steatocystoma multiplex- back to basics.

Breast J 2021 04 1;27(4):389-390. Epub 2021 Feb 1.

Consultant Breast Radiologist, Mount Elizabeth Novena Hospital, Singapore.

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Identification of clinically useful predictive genetic variants in pachyonychia congenita.

Clin Exp Dermatol 2021 Jul 17;46(5):867-873. Epub 2021 Mar 17.

Division of Dermatology, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel.

Background: Pachyonychia congenita (PC) refers to a group of autosomal dominant disorders caused by mutations in five keratin genes (KRT16,KRT6A,KRT17,KRT6B or KRT6C). Current disease classification is based on the gene harbouring disease-causing variants.

Aims: We harnessed the International Pachyonychia Congenita Research Registry (IPCRR) containing both clinical and molecular data on patients with PC worldwide, to identify genetic variants predicting disease severity. Read More

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Homozygous dominant missense mutation in Keratin 6b leading to severe pachyonychia congenita.

Clin Exp Dermatol 2021 Mar 10;46(2):410-412. Epub 2020 Dec 10.

Department of Dermatology, Jawaharlal Institute of Post Graduate Medical Education and Research (JIPMER), Pondicherry, India.

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Molecular epidemiology of pachyonychia congenita in the Israeli population.

Clin Exp Dermatol 2021 Jun 20;46(4):663-668. Epub 2020 Dec 20.

Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Background: Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leucokeratosis, pilosebaceous cysts and natal teeth. PC results from dominant mutations in one of five genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) encoding keratin proteins.

Aim: To delineate the clinical and genetic features of PC in a series of Israeli patients. Read More

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Ultrasound-Guided Intralesional Cryotherapy for Treatment of Steatocystoma Multiplex.

Chun-Yu Cheng

Dermatol Surg 2021 07;47(7):1020-1021

Department of Dermatology, Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Taoyuan, Taiwan.

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Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.

Pediatr Dermatol 2020 Sep 14;37(5):974-976. Epub 2020 Jul 14.

Department of Dermatology, Skin Research Institute of Peking University Shenzhen Hospital, Peking University Shenzhen Hospital, Shenzhen, China.

Pachyonychia congenita (PC) is a rare genodermatosis showing heterogeneity with five causative keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). Clinically, PC is characterized by hypertrophic onychodystrophy, painful palmoplantar keratoderma, oral leukokeratosis, and follicular hyperkeratosis. We describe an atypical case of PC in a young Chinese girl presenting with generalized bullae and identified a recurrent heterozygous missense mutation c. Read More

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September 2020

Severely Callused Hands and Feet.

Am Fam Physician 2020 05;101(10):623-624

Southern Colorado Family Medicine Residency, Pueblo, CO, USA.

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A simple modified surgical technique combined with tissue adhesive for steatocystoma multiplex.

J Cosmet Dermatol 2021 Jan 10;20(1):218-221. Epub 2020 May 10.

Department of Dermatologic Surgery, Shanghai Skin Diseases Hospital, Shanghai, China.

Background: Steatocystoma multiplex (SM) is a disorder of the pilosebaceous unit characterized by multiple sebum-containing dermal cysts. Psychological distress of patients is always derived from these undesirable lesions. Although various treatments have been attempted to improve cosmetic outcomes, no optimal treatment strategy has been established to date. Read More

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January 2021

Ultrasound Morphologic Features of Steatocystoma Multiplex With Clinical Correlation.

J Ultrasound Med 2020 Nov 1;39(11):2255-2260. Epub 2020 May 1.

Department of Dermatology, Universidad de Chile, Santiago, Chile.

The ultrasound features of 87 steatocytoma multiplex (SCM) lesions detected in 9 patients are reported. Steatocytoma multiplex is a hamartomatous condition derived from the pilosebaceous duct junction that generates multiple cutaneous cystic lesions. It appeared as clusters of well-defined hypoechoic nodules with mild posterior enhancement in 100% of cases, with both dermal and subcutaneous locations in 67%. Read More

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November 2020

Successful treatment of Pachyonychia congenita with Rosuvastatin.

L Frommherz C Has

J Eur Acad Dermatol Venereol 2020 Sep 27;34(9):e480-e482. Epub 2020 May 27.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.

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September 2020

A role for keratins in supporting mitochondrial organization and function in skin keratinocytes.

Mol Biol Cell 2020 05 26;31(11):1103-1111. Epub 2020 Mar 26.

Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI 48109.

Mitochondria fulfill essential roles in ATP production, metabolic regulation, calcium signaling, generation of reactive oxygen species (ROS), and additional determinants of cellular health. Recent studies have highlighted a role for mitochondria during cell differentiation, including in skin epidermis. The observation of oxidative stress in keratinocytes from null mouse skin, a model for pachyonychia congenita (PC)-associated palmoplantar keratoderma, prompted us to examine the role of Keratin (K) 16 protein and its partner K6 in regulating the structure and function of mitochondria. Read More

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Pachyonychia congenita, a paradigm for rare skin disorders.

Br J Dermatol 2020 03;182(3):521-522

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London and Department of Dermatology, Barts Health NHS Trust, London, ERN-Skin, U.K.

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